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Genetics Home Reference: your guide to understanding genetic conditions
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BUB1B

The information on this page was automatically extracted from online scientific databases.

What is the official name of the BUB1B gene?

The official name of this gene is “BUB1 mitotic checkpoint serine/threonine kinase B.”

BUB1B is the gene's official symbol. The BUB1B gene is also known by other names, listed below.

What is the normal function of the BUB1B gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/701):

This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/O60566):

Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.

How are changes in the BUB1B gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/O60566) provides the following information about the BUB1B gene's known or predicted involvement in human disease.

Defects in BUB1B are associated with tumor formation.

Premature chromatid separation trait (PCS): Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant.[1] The disease is caused by mutations affecting the gene represented in this entry.

Mosaic variegated aneuploidy syndrome 1 (MVA1): A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases.[2] The disease is caused by mutations affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/701) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the BUB1B gene.
  • Mosaic variegated aneuploidy syndrome[2]
  • Premature chromatid separation trait[1]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the BUB1B gene located?

Cytogenetic Location: 15q15

Molecular Location on chromosome 15: base pairs 40,161,008 to 40,221,135

The BUB1B gene is located on the long (q) arm of chromosome 15 at position 15.

The BUB1B gene is located on the long (q) arm of chromosome 15 at position 15.

More precisely, the BUB1B gene is located from base pair 40,161,008 to base pair 40,221,135 on chromosome 15.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about BUB1B?

You and your healthcare professional may find the following resources about BUB1B helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BUB1B gene or gene products?

  • Bub1A
  • BUB1beta
  • BUBR1
  • hBUBR1
  • MAD3L
  • MVA1
  • SSK1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding BUB1B?

anaphase ; aneuploidy ; apoptosis ; autosomal ; autosomal dominant ; cancer ; centrosome ; chromatid ; chromosome ; congenital ; developmental delay ; fertility ; gene ; heterozygous ; inheritance ; interphase ; intrauterine growth retardation ; kinase ; kinetochore ; leukemia ; metaphase ; microcephaly ; mitosis ; mosaic ; motor ; polyploid ; progression ; protein ; rhabdomyosarcoma ; segregation ; spectrum ; syndrome ; trait ; tumor ; Wilms tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: July 21, 2014